Canonical Allele Identifier: CA501351626

Gene: NACA2

Linked Data

• dbSNP Id: rs1263651658
• gnomAD v2: 17-59668233-G-C
• gnomAD v4: 17-61590872-G-C
• MyVariant Identifiers: chr17:g.59668233G>C (hg19) ; chr17:g.61590872G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61590872G>C , CM000679.2:g.61590872G>C	GRCh38
NC_000017.10:g.59668233G>C , CM000679.1:g.59668233G>C	GRCh37
NC_000017.9:g.57023015G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521764.3:c.309C>G MANE Select	ENSP00000427802.1:p.Leu103=
ENST00000521764.2:c.309C>G	ENSP00000427802.1:p.Leu103=
NM_199290.3:c.309C>G	NP_954984.1:p.Leu103=
NM_199290.4:c.309C>G MANE Select	NP_954984.1:p.Leu103=